Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

The Digital Health Measurement Collaborative Community (DATAcc) by the Digital Medicine Society (DiMe) today announced the ...

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human ...

The FDA’s rare pediatric disease priority review voucher program missed reauthorization at the last minute in 2024; advocates ...

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...

It is classified as one of the rare diseases, yet it affects approximately one in 7,744 live births in India. There is no cure for SMA; it can only be managed, and the progression can either be ...

SDG 3 - Good health and wellbeing and SDG 10 - Reduced inequalities. This Collection aims to highlight this important area of research and bring together researchers that cover the various aspects of ...

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...